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| http://dx.doi.org/10.1177/014107689408700717 | DOI Listing |
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Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings.
JID Innov
March 2023
Department of Dermatology, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Skin findings can be critical to determining whether a patient with lymphangioleiomyomatosis (LAM), a progressive pulmonary disease that predominantly affects adult women, has sporadic LAM or LAM in association with tuberous sclerosis complex (TSC). Three individuals with LAM underwent evaluation for TSC-associated mucocutaneous and internal findings. We used our previously published algorithm to confirm the clinical suspicion for mosaicism and guide the selection of tissue specimens and genetic workup.
View Article and Find Full Text PDFMacrodactyly as a rare manifestation of tuberous sclerosis.
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March 2023
Department of Radiology, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal. Electronic address:
Macrodactyly in tuberous sclerosis complex.
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Departments of, Department of, Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
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Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations?
J Eur Acad Dermatol Venereol
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Department. of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
In patients with tuberous sclerosis, we can today distinguish between two different categories of segmental mosaicism. The well-known simple segmental mosaicism is characterized by a unilateral or otherwise localized arrangement of the ordinary lesions of the disorder, reflecting heterozygosity for an early postzygotic new mutation. By contrast, superimposed mosaicism is defined by a pronounced segmental involvement in a patient with ordinary non-segmental lesions of the same disorder, resulting in a heterozygous embryo from loss of the corresponding wild-type allele that occurred at a very early developmental stage.
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